Developmental Paediatrics Flashcards
1
Q
A
Answer: MeCP2
- MeCP2 mutation = Rett
-
TSC1 mutation = tuberous sclerosis
- Seizures, ash leaf, shagreen patch, adenoma sebaceum, harmatomas, rhabdomyomas, infantile spasms
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DHCR7 mutation= Smith Lemli Opitz syndrome
- Slow growth, microcephaly, mental retardation, cleft PALATE, heart defects, fused 2nd + 3rd toe, extra fingers + toes, underdeveloped external genitals in males
- Caused by a deficiency in 7-dehydrocholesterol reductase results in abnormal cholesterol metabolism
- AR disorder
-
UBE3A deletion = Angelman syndrome
- UBE3A deletion on chromosome 15
- 4 ways this can occur
- Deletion positive 70%
- Mutation 11%
- Imprinting centre defect 6%
- Paternal uniparental disomy 3%
2
Q
At what age should a child be able to shake a ratte and make a sound?
A
6-9 months
3
Q
At what age will kids be able to find a toy that it is sees being hidden under a blanket
A
9 months
4
Q
A
Language evaluation
5
Q
A
6
Q
A
Functional speech
